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Waardenburg syndrome

Klein-Waardenburg syndrome; Waardenburg-Shah syndrome

 

Waardenburg syndrome is a group of conditions passed down through families that involve deafness and pale skin, hair, and eye color.

Causes

 

Waardenburg syndrome is usually inherited as an autosomal dominant trait, meaning only one parent has to pass on the faulty gene for a child to be affected.

There are four main types of Waardenburg syndrome. The most common are type I and type II.

Type III (Klein-Waardenburg syndrome) and type IV (Waardenburg-Shah syndrome) are more rare.

The multiple types of this syndrome result from defects in different genes. Most people with this disease have a parent with the disease, but the symptoms in the parent can be quite different from those in the child.

 

Symptoms

 

Symptoms may include:

  • Cleft lip (rare)
  • Constipation
  • Deafness (more common in type II disease)
  • Extremely pale blue eyes or eye colors that don't match (heterochromia)
  • Pale color skin, hair, and eyes (partial albinism)
  • Difficulty completely straightening joints
  • Possible slight decrease in intellectual function
  • Wide-set eyes (in type I)
  • White patch of hair or early graying of the hair

Less common types of this disease may cause problems with the arms or intestines.

 

Exams and Tests

 

Tests may include:

  • Audiometry
  • Bowel transit time
  • Colon biopsy
  • Genetic testing

 

Treatment

 

There is no specific treatment. Symptoms will be treated as appropriate. Special diets and medicines to keep the bowel moving are prescribed to those patients who have constipation. Hearing should be monitored closely.

 

Outlook (Prognosis)

 

Once hearing problems are corrected, most people with this syndrome should be able to lead a normal life. Those with rarer forms of the syndrome may have other complications.

 

Possible Complications

 

  • Constipation severe enough to require part of large bowel to be removed
  • Hearing loss
  • Self-esteem problems, or other problems related to appearance
  • Slight decreased intellectual functioning (possible, unusual)
  • Slight increased risk for muscle tumor called rhabdomyosarcoma

 

When to Contact a Medical Professional

 

Genetic counseling may be helpful if you have a family history of Waardenburg syndrome and plan to have children. Call for a hearing test if you or your child has deafness or decreased hearing.

 

 

References

Milunsky JM. Waardenburg Syndrome Type I. 2001 Jul 30 [Updated 2011 Dec 29]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013.

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        Tests for Waardenburg syndrome

         
           

          Review Date: 9/8/2013

          Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

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